Linked Data
dbSNP Id:
rs1044255052
gnomAD v2:
X-68049722-G-A
gnomAD v3:
X-68829879-G-A
gnomAD v4:
X-68829879-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.68829879G>A , CM000685.2:g.68829879G>A | GRCh38 |
| NC_000023.10:g.68049722G>A , CM000685.1:g.68049722G>A | GRCh37 |
| NC_000023.9:g.67966447G>A | NCBI36 |
| NG_008887.1:g.5883G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000204961.5:c.103G>A MANE Select | ENSP00000204961.4:p.Val35Ile | |
| ENST00000204961.4:c.103G>A | ENSP00000204961.4:p.Val35Ile | |
| NM_004429.4:c.103G>A | NP_004420.1:p.Val35Ile | |
| NM_004429.5:c.103G>A MANE Select | NP_004420.1:p.Val35Ile |